Disease: Moderate intellectual disability
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 32
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs1131691299
DDX3X
0.882 0.160 X 41341587 frameshift variant C/- del 9
rs886041876
HUWE1
0.851 0.280 X 53551078 missense variant G/A snv 7